Canonical Allele Identifier: CA1825156

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs746464063
• ExAC: 2:109545815 T / TTAGCAAGCTACCA
• MyVariant Identifiers: chr2:g.109545815_109545816insTAGCAAGCTACCA (hg19) ; chr2:g.108929359_108929360insTAGCAAGCTACCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108929360_108929361insAGCAAGCTACCAT , CM000664.2:g.108929360_108929361insAGCAAGCTACCAT	GRCh38
NC_000002.11:g.109545816_109545817insAGCAAGCTACCAT , CM000664.1:g.109545816_109545817insAGCAAGCTACCAT	GRCh37
NC_000002.10:g.108912248_108912249insAGCAAGCTACCAT	NCBI36
NG_008257.1:g.65013_65014insTGGTAGCTTGCTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.194_195insTGGTAGCTTGCTA (EDAR) MANE Select	ENSP00000258443.2:p.Lys65AsnfsTer34
ENST00000258443.6:c.194_195insTGGTAGCTTGCTA (EDAR)	ENSP00000258443.2:p.Lys65AsnfsTer34
ENST00000376651.1:c.194_195insTGGTAGCTTGCTA (EDAR)	ENSP00000365839.1:p.Lys65AsnfsTer34
ENST00000409271.5:c.194_195insTGGTAGCTTGCTA (EDAR)	ENSP00000386371.1:p.Lys65AsnfsTer34
NM_022336.3:c.194_195insTGGTAGCTTGCTA (EDAR)	NP_071731.1:p.Lys65AsnfsTer34
XM_006712204.1:c.194_195insTGGTAGCTTGCTA (EDAR)	XP_006712267.1:p.Lys65AsnfsTer34
XM_011510502.1:c.245_246insTGGTAGCTTGCTA (EDAR)	XP_011508804.1:p.Lys82AsnfsTer34
XM_011510503.1:c.245_246insTGGTAGCTTGCTA (EDAR)	XP_011508805.1:p.Lys82AsnfsTer34
XM_011510502.2:c.338_339insTGGTAGCTTGCTA (EDAR)	XP_011508804.2:p.Lys113AsnfsTer34
XM_011510503.2:c.338_339insTGGTAGCTTGCTA (EDAR)	XP_011508805.2:p.Lys113AsnfsTer34
XM_017004623.2:c.8370+156314_8370+156315insAGCAAGCTACCAT (RANBP2)	XP_016860112.1:n.8370+156314_8370+156315i...
NM_022336.4:c.194_195insTGGTAGCTTGCTA (EDAR) MANE Select	NP_071731.1:p.Lys65AsnfsTer34